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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
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Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

机译：减毒粘附型诊断VI：临床，生物化学和遗传缺陷

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摘要

Mucopolysaccharidosis type VI (MPS VI) is a clinically heterogeneous lysosomal disease, which can be divided into 2 main categories on the basis of age of onset and severity of symptoms. The diagnosis of the attenuated form is often delayed given subtle facial features rather than the typical coarse facial features of the classic form. Here, we discuss the difficulties in establishing the diagnosis of MPS VI on the basis of the report of 4 individuals. The most common signs and symptoms in our series were bone abnormalities and hip pain as initial manifestations and cardiac changes detected after follow-up studies. On the basis of our cohort and others worldwide, awareness of attenuated forms of MPS VI should be increased particularly among general practitioners, pediatricians, rheumatologists, orthopedists, ophthalmologists, and cardiologists. Moreover, these health care providers should be aware of the technical aspects involved in the molecular and biochemical diagnosis process so that they are aware how diagnostic errors may occur.
机译：粘性多种子胞菌型VI（MPS VI）是一种临床上异质溶酶体疾病，可根据发病年龄和症状严重程度分为2个主要类别。衰减形式的诊断通常延迟给予微妙的面部特征，而不是经典形式的典型粗糙面部特征。在这里，我们讨论了在4个人报告的基础上建立了MPS VI的难题。我们系列中最常见的迹象和症状是骨异常和髋关节疼痛，作为后续研究后检测到的初始表现和心脏变化。在我们的队列和全球的其他人的基础上，尤其是普通从业者，儿科医生，风湿病学家，矫形家，眼科医生和心脏病学家的委员会常规的认证形式的认识。此外，这些医疗保健提供者应该了解分子和生化诊断过程中涉及的技术方面，以便他们了解如何发生诊断错误。

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